Background: Diabetic nephropathy from type 2 diabetes mellitus is the most common cause of end-stage renal disease (ESRD) in the United States and in Western Europe. Although patients with overt nephropathy generally experience greater cumulative glycemic exposure, the difference in glycemic control between patients developing nephropathy compared to those who did not, could not be demonstrated. This observation is consistent with the notion that perhaps other factors, in addition to glycemic control, have a bearing on the development of nephropathy. Genetic factors, which specifically increase the susceptibility to nephropathy in patients with diabetes, have been proposed.
Methods: A range of linkage and association studies has been performed for revealing the genetic background of diabetic nephropathy.
Results: Until now, no mutation has been identified which could explain the development of diabetic nephropathy in the majority of diabetic patients.
Conclusions: Because of relatively small case numbers of all studies being performed so far, conclusions from those studies are limited. With the development of better technologies for an affordable genome-wide association study using thousands of markers, it might become possible to unravel the genetic causes of diabetic nephropathy.